Free amino acids in the cerebrospinal fluid of children with febrile seizures.

abstract：:Functional MRI mapping of language areas in children frequently employs a covert verb generation task. Because responses are not monitored, the relationship between fMRI activation and task performance is unknown. We compared fMRI activation during covert and overt verb generation to performance during the overt task....

journal_title：Neuropediatrics

authors： Vannest J,Rasmussen J,Eaton KP,Patel K,Schmithorst V,Karunanayaka P,Plante E,Byars A,Holland S

更新日期：2010-10-01 00:00:00

abstract：:Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, sever...

journal_title：Neuropediatrics

authors： Kyllerman M,Blomstrand S,Månsson JE,Conradi NG,Hindmarsh T

更新日期：1990-11-01 00:00:00

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...

journal_title：Neuropediatrics

authors： Gücüyener K,Ozgül K,Paternotte C,Erdem H,Prud'homme JF,Ozgüç M,Topaloğlu H

更新日期：2001-06-01 00:00:00

abstract：:A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquired skills minimally. The head circumference centile decreased. Magnetic resonance imaging showed progressive neuronal atrophy and secondary delay in myelination. Dihydropyrimidine...

journal_title：Neuropediatrics

authors： Putman CW,Rotteveel JJ,Wevers RA,van Gennip AH,Bakkeren JA,De Abreu RA

更新日期：1997-04-01 00:00:00

abstract：:Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's ...

journal_title：Neuropediatrics

authors： Domingos J,Sarkozy A,Scoto M,Muntoni F

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:This study aims to describe complications related to ventricular catheter systems with subcutaneous reservoirs (VCSR) (such as Ommaya reservoirs) in pediatric patients with brain tumors. METHODS:Retrospective analysis of consecutive patients with a total of 31 VCSR treated at the Children's University Hospit...

journal_title：Neuropediatrics

authors： Gerber NU,Müller A,Bellut D,Bozinov O,Berger C,Grotzer MA

更新日期：2015-12-01 00:00:00

abstract：:Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who w...

journal_title：Neuropediatrics

authors： Spiegler J,Stefanova I,Hellenbroich Y,Sperner J

更新日期：2011-10-01 00:00:00

abstract：:The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...

journal_title：Neuropediatrics

authors： Vos AJ,Joosten EM,Gabreëls-Festen AA,Gabreëls FJ,Notermans SL,Lamers KJ

更新日期：1982-02-01 00:00:00

abstract：:Mitochondrial dysfunction of the energy generating system was suggested in two infants with progressive infantile poliodystrophy characterised by hypotonia, refractory epilepsy, visual impairment, psychomotor retardation, profound brain atrophy, hepatopathy, and increased levels of lactate in blood and cerebrospinal f...

journal_title：Neuropediatrics

authors： Tesarova M,Mayr JA,Wenchich L,Hansikova H,Elleder M,Blahova K,Sperl W,Zeman J

更新日期：2004-08-01 00:00:00

abstract：:Birth records of 97 children assessed at 18 months and found to be developmentally delayed were scored according to the optimality concept developed by Prechtl. These children were compared to a control series of 81 children. In order to evaluate the predictive validity of the parental developmental assessments perfor...

journal_title：Neuropediatrics

authors： Sonnander K,Gustavson KH

更新日期：1987-08-01 00:00:00

abstract：:Activin A is a multifunctional growth and differentiation factor belonging to the transforming growth factor β (TGF-β) family. Growing evidence indicates its role as a neurotrophic factor and regulator of synaptic transmission as well as its functional importance in several types of cerebral injury. We recently descri...

journal_title：Neuropediatrics

authors： Brackmann FA,Alzheimer C,Trollmann R

更新日期：2015-04-01 00:00:00

abstract：:Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...

journal_title：Neuropediatrics

authors： Hackenberg A,Baumer A,Sticht H,Schmitt B,Kroell-Seger J,Wille D,Joset P,Papuc S,Rauch A,Plecko B

更新日期：2014-08-01 00:00:00

abstract：BACKGROUND:Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. CASE:A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disabilit...

journal_title：Neuropediatrics

authors： Hirasawa-Inoue A,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sugai K,Inoue K,Goto YI,Sasaki M

更新日期：2019-12-01 00:00:00

abstract：:In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adults. Here, we present a consensus report on best practice for the tre...

journal_title：Neuropediatrics

authors： Berweck S,Lütjen S,Voss W,Diebold U,Mücke KH,Aisch A,Ostertag B,Friedrich M,Wagner C,Kudernatsch M,Granel M,Kluger G,Ludwikowski B,Peraud A,Rauchenzauner M,Schroeder AS,Sprinz A,Wienand R,Wilken B,Kästner S,Zeches

更新日期：2014-10-01 00:00:00

abstract：AIM:The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS:Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly establishe...

journal_title：Neuropediatrics

authors： Gburek-Augustat J,Groeschel S,Kern J,Beck-Woedl S,Just J,Harzer K,Stampfer M,Kraegeloh-Mann I

更新日期：2020-02-01 00:00:00

abstract：AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...

journal_title：Neuropediatrics

authors： Kaczyńska J,Janik P

更新日期：2021-01-14 00:00:00

abstract：:We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed isc...

journal_title：Neuropediatrics

authors： Angelini L,Granata T,Zibordi F,Binelli S,Zorzi G,Besana C

更新日期：1998-10-01 00:00:00

abstract：OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...

journal_title：Neuropediatrics

authors： Livingston JH,Mayer J,Jenkinson E,Kasher P,Stivaros S,Berger A,Cordelli DM,Ferreira P,Jefferson R,Kutschke G,Lundberg S,Ounap K,Prabhakar P,Soh C,Stewart H,Stone J,van der Knaap MS,van Esch H,van Mol C,Wakeling E,

更新日期：2014-06-01 00:00:00

abstract：:A 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...

journal_title：Neuropediatrics

authors： Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

更新日期：2007-12-01 00:00:00

abstract：:Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS ...

journal_title：Neuropediatrics

authors： Hecher L,Johannsen J,Bierhals T,Buhk JH,Hempel M,Denecke J

更新日期：2020-12-01 00:00:00

abstract：:The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of th...

journal_title：Neuropediatrics

authors： Hageman G,Willemse J

更新日期：1983-02-01 00:00:00

abstract：:A previously healthy one-year-old boy, the youngest child of unrelated parents, presented with a four-week history of episodes of myoclonus triggered only by tactile stimulation to his head. There had been no loss of developmental skills. The electroencephalogram (EEG) revealed generalised polyspike wave activity both...

journal_title：Neuropediatrics

authors： Kurian MA,King MD

更新日期：2003-06-01 00:00:00

abstract：:While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only...

journal_title：Neuropediatrics

authors： Boltshauser E,Martin F,Altermatt S

更新日期：2002-06-01 00:00:00

abstract：:Congenital horizontal gaze paralysis is a rare disorder which may be associated with severe scoliosis of early onset. We present the clinical findings of two sisters with this syndrome. The additional finding of a unique pericentric inversion of chromosome 12 is considered to be incidental. Every child with congenital...

journal_title：Neuropediatrics

authors： Steffen H,Rauterberg-Ruland I,Breitbach N,Thomsen M,Kolling GH

更新日期：1998-08-01 00:00:00

abstract：:We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is...

journal_title：Neuropediatrics

authors： Lo-Castro A,Galasso C,Cerminara C,El-Malhany N,Benedetti S,Nardone AM,Curatolo P

更新日期：2009-06-01 00:00:00

abstract：:Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...

journal_title：Neuropediatrics

authors： Kevelam SH,Steenweg ME,Srivastava S,Helman G,Naidu S,Schiffmann R,Blaser S,Vanderver A,Wolf NI,van der Knaap MS

更新日期：2016-12-01 00:00:00

abstract：:Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an...

journal_title：Neuropediatrics

authors： Gencik M,Hammans C,Strehl H,Wagner N,Epplen JT

更新日期：2002-04-01 00:00:00

abstract：:We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement...

journal_title：Neuropediatrics

authors： Fujimoto S,Yokochi K,Nakano M,Wada Y

更新日期：1995-10-01 00:00:00

abstract：PURPOSE:The aim of this study was to correlate hypoxic-ischemic white matter damage on neonatal MRI with MRI appearance and neurological outcome at the age of 1 1/2 years. PATIENTS AND METHODS:A sequential cohort of infants with periventricular densities on neonatal ultrasound was studied with neonatal MRI. Images of ...

journal_title：Neuropediatrics

authors： Sie LT,Hart AA,van Hof J,de Groot L,Lems W,Lafeber HN,Valk J,van der Knaap MS

更新日期：2005-04-01 00:00:00

abstract：:We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophtha...

journal_title：Neuropediatrics

authors： Maytal J,Spiro AJ,Sinnar S,Moshe SL

更新日期：1987-02-01 00:00:00